Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv 8
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins 7
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7
rs74315402
PRNP
0.882 0.200 20 4699570 missense variant C/T snv 7
rs120074125
SMPD1
0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 7
rs121918544
TINF2
0.827 0.200 14 24240635 missense variant C/T snv 7
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 6
rs137852763
MRE11
0.851 0.320 11 94476318 missense variant C/G snv 6
rs2307441
POLG
0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 6
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 5
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv 5
rs1553878395
SEPSECS
0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 5
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 5
rs587777343
STUB1 ; JMJD8
0.925 0.120 16 682232 missense variant C/T snv 5
rs201754030
TSFM
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 5
rs1335702493
APTX
0.925 0.200 9 32973507 stop gained C/A;T snv 4
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv 4
rs104894699
KCNC3
0.925 0.120 19 50323694 missense variant C/T snv 4
rs121918514
PRKCG
0.925 0.080 19 53889705 missense variant G/A snv 4